Early management of sight threatening retinopathy in incontinentia pigmenti

Abstract

Background: Early blindness secondary to incurable retinal detachment is one of the main complications of incontinentia pigmenti (IP). The efficiency of ophthalmological management for preventing such evolution has not been proven. The objective of this retrospective study was to report a screening and treatment strategy of the vascular retinopathy in newborns and infants with IP. Results: All files of patients diagnosed with IP within the two first months of life in a single tertiary referral center, between 2010 and 2015, were retrospectively included. The minimum follow-up duration was three years. Patients had undergone systematic indirect ophthalmoscopy examination, looking for signs of peripheric retinal vasculopathy, according to a standardized schedule: at diagnosis, at age 1, 2, 3, 6, 9, 12, 18 and 24 months, and then once a year. Urgent laser therapy was performed under anesthesia in case of signs of retinal ischemia. Nineteen children files (17 girls) were studied. Median age at IP diagnosis was 1 day [0-44]; median age at first retinal evaluation was 25 days. Retinal manifestations occurred in 7 patients (n = 10/38 eyes, 26.3%); they were diagnosed at median age 19 days [3-59]. These patients underwent one or two ablative session per eye (mean 1.7, median 2), under general anaesthesia. No retinal detachment or fold occurred during the follow-up (median 6 years [3-9.8]). Conclusion: Ocular screening should be performed in all cases of IP as soon as possible after diagnosis. A strict ophthalmological monitoring and prophylactic treatment of retinal vasculopathy can efficiently prevent the early blinding complications of the disease.

Retinal Neovascularization in Two Patients with Incontinentia Pigmenti

“… 17 Clinical manifestations found in the eye may vary, 14 and is generally classified into two groups, retinal and non-retinal abnormalities. 10 , 13 Retinal abnormalities are caused by occlusive blood vessel conditions or ischemia, which is compensated by blood vessel proliferation. 4 , 9 , 15 The impairment usually appears at birth or up to one year old, 10 in the form of retinal blood vessel disorders, retinal fibrosis, or retinal detachment.…”

“… 7 , 9 CNS and ocular manifestations can remain undetected until infancy or early childhood, leading to severe functional nervous system abnormalities such as convulsion, mental retardation, 3 , 12 and muscle spasticity, 3 as well as visual impairments ranging from mild to severe, even blindness. 2 , 7 , 13 , 14 …”

“…IKBKG gene mutations cause cell death, which leads to microvascular problems such as retinal ischemia and neovascularization. 9 Early screening of ocular disorders are important, as neovascularization of the retina can leads to retinal detachment and blindness, 13 , 14 however some cases may resolve spontaneously. 3 This case report aims to present two rare cases of IP in baby girl with ocular manifestations in the form of RN.…”

Incontinentia pigmenti and the eye

“…Michel et al presented a case series of nineteen patients with IP who had excellent anatomic outcomes when patients were examined monthly for the first three months of life, then every three months during the first year of life, every six months during the second year of life, then annually. Treatment, when indicated, should be performed urgently [24 ▪▪ ].…”

“…It must be noted that laser photocoagulation does not prevent foveal and macular vessel abnormalities, which can also result in vision loss. There is not yet a known treatment for the foveal anomalies [24 ▪▪ ,27 ▪▪ ,28–30]. In cases in which preretinal or vitreous hemorrhage is present, pars plana vitrectomy is recommended to prevent amblyopia and decrease the risk of tractional RD from fibrovascular proliferation [31].…”